The porphyrias

Disease-a-Month - Tập 35 - Trang 7-11 - 1989
Joseph R. Bloomer, Herbert L. Bonkovsky

Tài liệu tham khảo

Macalpine, 1969, Porphyria and King George III, Sci Am, 38, 10.1038/scientificamerican0769-38 With, 1980, A short history of porphyrins and the porphyrias, Int J Biochem, 11, 189, 10.1016/0020-711X(80)90219-0 Tschudy, 1980, Porphyrin metabolism and the porphyrias, 939 1982, 2, 87 Bonkowsky, 1982, Porphyrin and heme metabolism in the porphyrias, 351 Kappas, 1983, The porphyrias, 1301 Bloomer, 1988, Porphyrin metabolism, 451 Schmid, 1954, Porphyrin content of bone marrow and liver in the various forms of porphyria, Arch Intern Med, 93, 167, 10.1001/archinte.1954.00240260001001 Pierach, 1987, Red blood cell porphobilinogen deaminase in the evaluation of acute intermittent porphyria, JAMA, 257, 60, 10.1001/jama.1987.03390010064029 Bonkowsky, 1979, Hepatic heme metabolism and its control, Yale J Biol Med, 52, 13 Whiting, 1976, Delta-aminolevulinic acid synthase from chick embryo liver mitochondria. It. Immunochemical correlation between synthesis and activity in induction and repression, J Biol Chem, 251, 1347, 10.1016/S0021-9258(17)33745-6 Yamauchi, 1980, Translocation of delta-aminolevulinate synthase from the cytosol to the mitochondria and its regulation by heme in the rat liver, J Biol Chem, 255, 1746, 10.1016/S0021-9258(19)86095-7 Scholnick, 1969, Soluble hepatic ALA synthetase: End-product inhibition of the partially purified enzyme, 63, 65 Ponka, 1986, Regulation of heme synthesis in erythroid cells by iron delivery from transferrin, 55 Cripps, 1967, Fluorescing erythrocytes and porphyrin screening tests on urine, stool, and blood, Arch Dermatol, 96, 712, 10.1001/archderm.1967.01610060106022 Strand, 1970, Heme biosynthesis in intermittent acute porphyria: Decreased hepatic conversion of porphobilinogen to porphyrins and increased delta-aininolevulinic acid synthetase activity, 67, 1315 Bonkowsky, 1975, Porphyrin synthesis and mitochondrial respiration in acute intermittent porphyria: Studies using cultured human fibroblasts, J Lab Clin Med, 85, 93 Magnussen, 1974, A red cell enzyme method for the diagnosis of acute intermittent porphyria, Blood, 44, 857, 10.1182/blood.V44.6.857.857 Meyer, 1973, Clinical and biochemical studies of disordered heme biosynthesis, Enzyme, 16, 334, 10.1159/000459398 Meyer, 1972, Intermittent acute porphyria-demonstration of a genetic defect in porphobilinogen metabolism, N Engl J Med, 286, 1277, 10.1056/NEJM197206152862401 Sassa, 1975, Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: Prenatal diagnosis of the porphyric trait, J Exp Med, 142, 722, 10.1084/jem.142.3.722 Anderson, 1981, Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect, J Clin Invest, 68, 1, 10.1172/JCI110223 Bonkowsky, 1975, Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts, J Clin Invest, 56, 1139, 10.1172/JCI108189 Bottomley, 1975, Diminished erythroid ferrochelatase activity in proloporphyria, J Lab Clin Med, 86, 126 Becker, 1976, Reduced ferrochelatase activity: A defect common to porphyria variegata and protoporphyria, Br J Haematol, 36, 171, 10.1111/j.1365-2141.1977.tb00637.x Brodie, 1977, Haem biosynthesis in peripheral blood in erythropoietic protoporphyria, Clin Exp Dermatol, 2, 351, 10.1111/j.1365-2230.1977.tb01579.x deGoeij, 1975, Decreased haem synthetase activity in blood cells of patients with erythropoietic protoporphyria, Eur J Clin Invest, 5, 397, 10.1111/j.1365-2362.1975.tb00470.x Dowdle, 1967, Delta-aminolaevulinic acid synthetase activity in normal and porphyric human livers, S Afr Med J, 41, 1096 McIntyre, 1971, Hepatic delta-aminolaevulinic acid synthetase in an attack of hereditary coproporphyria and during remission, Lancet, 1, 560, 10.1016/S0140-6736(71)91161-5 Nakau, 1966, Activity of aminolaevulinic acid synthetase in normal and porphyric human livers, Nature, 210, 838, 10.1038/210838b0 Tschudy, 1965, Acute intermittent porphyria: The first “overproduction disease” localized to a specific enzyme, 53, 841 de Verneuil, 1986, Uroporphyrinogen decarboxylase structural mutant (gly281 → glu) in a case of porphyria, Science, 234, 732, 10.1126/science.3775362 de Verneuil, 1986, Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria, J Clin Invest, 77, 431, 10.1172/JCI112321 Bonkowsky, 1982, Neurologic manifestation of acute porphyria, Semin Liver Dis, 2, 108, 10.1055/s-2008-1040701 Yeung, 1987, Pathogenesis of acute porphyria, Q J Med De Matteis, 1962, The biochemical disturbance in acute intermittent and experimental porphyria, Lancet, 1, 1332, 10.1016/S0140-6736(62)92427-3 Peters, 1974, Porphyria: Theories of etiology and treatment, vol 16, 323 Roman, 1969, Zinc in porphyria, Am J Clin Nutrition, 22, 1290, 10.1093/ajcn/22.10.1290 Cavanagh, 1967, The nature of the neuropathy complicating acute intermittent porphyria, Lancet, 2, 1023, 10.1016/S0140-6736(67)90292-9 Feldman, 1971, Presynaptic neuromuscular inhibition by porphobilinogen and porphobilin, 68, 383 Feldman, 1968, Presynaptic neuromuscular inhibition of delta-aminolevulinic acid, a porphyrin precursor, Trans Am Neurol Assoc, 93, 206 Bonkowsky, 1971, Repression of the overproduction of porphyrin precursors in acute intermittent porphyria by intravenous infusions of hematin, 68, 2725 Percy, 1977, Porphyrin precursors in blood, urine and cerebrospinal fluid in acute porphyria, S Afr Med J, 52, 219 Kramer, 1971, A possible explanation for the neurological disturbances in the porphyrias, S Afr J Lab Clin Med, 17, 103 Litman, 1985, Elevated brain tryptophan and enhanced 5-hydroxytrypiamine turnover in acute hepatic heme deficiency: Clinical implications, J Pharmacol Exp Ther, 232, 337 Ludwig, 1961, A genetic study of two families having the acute intermittent type of porphyria, Ann Intern Med, 55, 81, 10.7326/0003-4819-55-1-81 Sandberg, 1982, Porphyrin-induced photodamage as related to the subcellular localization of the porphyrins, Acta Derm Venereol, 100, 75 Bennett, 1983, The triplet and radical species of haematoporphyrin and some of its derivatives, Photochem Photobiol, 38, 1, 10.1111/j.1751-1097.1983.tb08358.x Volden, 1979, Photosensitivity and cutaneous acid hydrolases in porphyria cutanea tarda, Ann Clin Res, 11, 129 Dubbelman, 1978, Photodynanric effects of protoporphyrin on human erythrocytes. Nature of the cross-linking of membrane proteins, Biochim Biophys Acta, 511, 141, 10.1016/0005-2736(78)90309-7 Lim, 1981, Role of complement in porphyrin-induced photosensitivity, J Invest Dermatol, 76, 4, 10.1111/1523-1747.ep12524423 O'Connor, 1978, Prevalence of intermittent acute porphyria (IAP) in psychiatric and normal populations, Biochem Genet, 16, 37A Anderson, 1976, Studies in porphyria. V. Drug oxidation rates in hereditary hepatic porphyria, Clin Pharmacol Ther, 19, 47, 10.1002/cpt197619147 Desnick, 1985, Acute intermittent porphyria: Characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate, J Clin Invest, 76, 865, 10.1172/JCI112044 Grandchamp, 1987, Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene, Eur J Biochem, 162, 105, 10.1111/j.1432-1033.1987.tb10548.x Kappas, 1972, A defect of steroid hormone metabolism in acute intermittent porphyria, 31, 1293 Sassa, 1979, Steroid induction of δ-aminolevulinic acid synthase and porphyrins in liver. Structure-activity studies and the permissive effects of hormones on the induction process, J Biol Chem, 254, 10011, 10.1016/S0021-9258(19)86666-8 Pierach, 1982, Hematin therapy for the porphyric attack, Sernin Liver Dis, 2, 125, 10.1055/s-2008-1040702 Lamon, 1979, Hematin therapy for acute porphyria, Medicine (Baltimore), 58, 252, 10.1097/00005792-197905000-00005 Goetsch, 1986, Instability of hematin used in the treatment of acute hepatic porphyria, N Engl J Med, 315, 235, 10.1056/NEJM198607243150406 Mustajoki, 1986, Haem arginate in the treatment of acute hepatic porphyrias, Br Med J, 293, 538, 10.1136/bmj.293.6546.538-a Anderson, 1984, Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinizing hormone-releasing hormone, N Engl J Med, 311, 643, 10.1056/NEJM198409063111006 Shedlofsky, 1984, Seizure management in the hepatic porphyrias: Results from a cell-culture model of porphyria, Neurology, 34, 399, 10.1212/WNL.34.3.399 Bonkowsky, 1980, Seizure management in acute porphyria: Risks of valproate and clonazepam, Neurology, 30, 588, 10.1212/WNL.30.6.588 Elder, 1976, The primary enzyme defect in hereditary coproporphyria, Lancet, 2, 1217, 10.1016/S0140-6736(76)91143-0 Brenner, 1980, The enzymatic defect in variegate porphyria. Studies with human cultured skin fibroblasts, N Engl J Med, 302, 765, 10.1056/NEJM198004033021401 Doss, 1979, New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation, Kin Wochenschr, 57, 1123, 10.1007/BF01481493 Thunell, 1987, Aminolaevulinate dehydratase porphyria in infancy. A clinical and biochemical study, J Clin Chem Clin Biochem, 25, 5 Kushner, 1985, Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda, Gastroenterology, 88, 1232, 10.1016/S0016-5085(85)80084-6 Ostrowski, 1984, The function and morphology of the liver in porphyria cutanea tarda, Ann Clin Res, 16, 195 Elder, 1978, Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda, N Engl J Med, 299, 274, 10.1056/NEJM197808102990603 Felsher, 1982, Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda, N Engl J Med, 306, 766, 10.1056/NEJM198204013061302 Kushner, 1982, The enzymatic defect in porphyria cutanea tarda, N Engl J Med, 109, 113 Elder, 1982, Immunoreactive uroporphyrinogen decarboxylase is unchanged in porphyria caused by TCDD and hexachlorobenzene, Biochem Biophys Res Commun, 109, 113, 10.1016/0006-291X(82)91573-X Smith AG, Francis JE: Increased inhibition of hepatic uroporphyrinogen decarboxylase by hexachlorobenzene in male rats given the oestrogenic drugs diethylstilbestrol and chlorotrianisene. Biochem Pharmacol 198: 30:1849–1853. Elder, 1985, Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda, Lancet, 2, 229, 10.1016/S0140-6736(85)90287-9 Elder, 1980, Identification of two types, of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase, Clin Sci, 58, 477, 10.1042/cs0580477 de Verneuil, 1983, Effects of polychlorinated biphenyl compounds 2,3,7,8-teirachlorodibenzo-p-dioxin, phenobarbital and iron or hepatic uroporphyrinogen decarboxylase. Implications for the pathogenesis of porphyria, Biochem J, 214, 145, 10.1042/bj2140145 Lyon, 1988, Xenobiotic-mediated inhibition of hepatic uroporphyrinogen decarboxylase activity in 17-day old chick embryo liver cells in culture, Biochem Pharmacol, 37, 1123, 10.1016/0006-2952(88)90520-5 Bonkovsky, 1988, Role of cytochrome P-450 in porphyria caused by halogenated aromatic compounds, Ann NY Acad Sci, 514, 96, 10.1111/j.1749-6632.1987.tb48765.x Bonkovsky, 1988, Mechanism of iron-stirnulated uroporphyria: Studies in cultured hepatocytes, Clin Res, 36, 557A Bonkovsky, 1983, Iron and the liver. Acute effects of iron-loading on hepatic heme synthesis of rats. The role of decreased activity of δ-aminolevulinate dehydrase, J Clin Invest, 71, 1175, 10.1172/JCI110866 Bonkovsky, 1987, Hepatic heme synthesis in a new model of experimental hemochromatosis: Studies in rats fed finely divided iron, Hepatology, 7, 1195, 10.1002/hep.1840070605 Loveless, 1986, On the mechanism of liver damage in porphyria cutanea tarda, Hepatology, 6, 1160 Elder, 1986, Acquired uroporphyrinogen decarboxylase defects: Molecular mechanisms, 147 Elder, 1981, Hepato-erythropoietic porphyria: A new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda, Lancet, 1, 916, 10.1016/S0140-6736(81)91615-9 Magnus, 1961, Erythropoietic protoporphyria. A new porphyria syndrome with solar urticaria due to protoporphyrinaemia, Lancet, 2, 448, 10.1016/S0140-6736(61)92427-8 Cripps, 1965, Hepatobiliary changes in erythropoietic protoporphyria, Arch Pathol, 80, 500 Bloomer, 1979, Pathogenesis and therapy of liver disease in protoporphyria, Yale J Biol Med, 52, 39 Bonkovsky, 1986, Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect, Gastroenterology, 90, 191, 10.1016/0016-5085(86)90093-4 Klatskin, 1974, Birefringence of hepatic pigment deposits in erythropoietic protoporphyria. Specificity and sensitivity of polarization microscopy in the identification of hepatic porphyrin deposits, Gastroenterology, 67, 294, 10.1016/S0016-5085(19)32894-X Bloomer, 1975, Hepatic disease in erythropoietic protoporphyria, Am J Med, 58, 869, 10.1016/0002-9343(75)90644-0 Avner, 1982, Hepatic clearance and biliary secretion of protoporphyrin in the isolated, in situ perfused rat liver, J Lab Clin Med, 99, 885 Avner, 1981, Protoporphyrin-induced cholestasis in the isolated in situ perfused rat liver, J Clin Invest, 67, 385, 10.1172/JCI110046 Dobozy, 1983, Transfusion therapy for erythropoietic protoporphyria, Br J Dermatol, 109, 571, 10.1111/j.1365-2133.1983.tb07681.x Bloomer, 1983, Effect of hematin administration to patients with protoporphyria and liver disease, Hepatology, 2, 817, 10.1002/hep.1840020613 Gordeuk, 1986, Iron therapy for hepatic dysfunction in erythropoietic protoporphyria, Ann Intern Med, 105, 27, 10.7326/0003-4819-105-1-27 Van Haltum, 1986, Chenodeoxycholic acid therapy in erythrohepatic protoporphyria, J Hepatol, 3, 407, 10.1016/S0168-8278(86)80496-2 Strathers, 1966, Porphyrin-binding effect of cholestyramine. Results of in vitro and in vivo studies, Lancet, 2, 780, 10.1016/S0140-6736(66)90370-9 Pimstone, 1987, Therapeutic efficacy of oral charcoal in congenital erythropoietic porphyria, N Engl J Med, 316, 390, 10.1056/NEJM198702123160707 Schultz, 1874, Ein fall von pemphigus leprosus, kompliziert durch Lepra visceralis, Inaugural Dissertation Nordmann, 1982, Congenital erythropoietic porphyria, Semin Liver Dis, 2, 154, 10.1055/s-2008-1040705 Watson, 1964, A suggested control gene mechanism for the excessive production of types I and III porphyrins in congenital erythropoietic porphyria, 52, 478 Romeo, 1969, Uroporphyrinogen III cosynthetase in human congenital erythropoietic porphyria, 63, 856 Romeo, 1970, Uroporphyrinogen III cosynthetase in asymptomatic carriers of congenital erythropoietic porphyria, Biochem Genet, 4, 719, 10.1007/BF00486385 Haining, 1970, Congenital erythropoietic porphyria. II. The effects of induced polycythemia, Blood, 36, 297, 10.1182/blood.V36.3.297.297 Watson, 1974, Repression by hematin of porphyrin biosynthesis in erythrocyte precursors in congenital erythropoietic porphyria, 71, 278 Aldrich, 1951, Photosensitive or congenital porphyria with hemolytic anemia. I. Clinical and fundamental studies before and after splenectomy, Blood, 6, 685, 10.1182/blood.V6.8.685.685 Sutherland, 1951, Studies of coproporphyrin. VI. The effect of alcohol on the per diem excretion and isomer distribution of the urinary coproporphyrins, J Lab Clin Med, 37, 29 Aziz, 1964, Studies of coproporphyrin. VIII. Reinvestigation of the isomer distribution in jaundice and liver disease, J Lab Clin Med, 63, 596 Doss, 1980, Pathobiochemical transition of secondary coproporphyrinuria to chronic hepatic porphyria in humans, Klin Wochenschr, 58, 141, 10.1007/BF01477271 Wolkoff, 1973, Inheritance of the Dubin-Johnson syndrome, N Engl J Med, 283, 113, 10.1056/NEJM197301182880301